Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype

Clin Chem. 2020 May 1;66(5):739-741. doi: 10.1093/clinchem/hvaa079.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Acidosis / etiology*
  • Acidosis / genetics
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Female
  • Humans
  • Hypoglycemia / etiology*
  • Hypoglycemia / genetics
  • Infant
  • Mutation
  • Phenotype
  • Thiolester Hydrolases / deficiency*
  • Thiolester Hydrolases / genetics

Substances

  • Thiolester Hydrolases

Supplementary concepts

  • Beta-Hydroxyisobutyryl CoA Deacylase Deficiency